Pain syndromes
Gene: ELP1
Rated as green as it clearly caused the phenotype and although mainly described in the Ashkenazi population, at least one mutation has been identified in non-Ashkenazi (12687659)Created: 13 Jul 2017, 9:40 a.m.
dysfunction in pain sensation is part of the spectrumCreated: 29 Jun 2017, 9:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III, 223900; Dysautonomia, familial 223900
Comment on phenotypes: reformatted phenotype listingCreated: 19 Sep 2017, 11:34 a.m.
Comment on list classification: changed from Amber to Green after review with clinical teamCreated: 18 Jul 2017, 11:16 a.m.
High evidence. Riley Day Syndrome/HSAN 3 are alternative titles for the disorder. Disorder almost completely limited to persons of Ashkenazi Jewish extraction (one case exception PMID: 12687659) . Two pathogenic variants account for more than 99% of mutated alleles in individuals with FD of Ashkenazi Jewish descent. The major founder variant c.2204+6T>C (formerly IVS20+6T>C) is responsible for virtually all occurrences of FD among the Ashkenazim. However, there is at least one non-Jewish individual has had molecularly confirmed FD (PMID:12687659). As there is one non-Jewish individual we may NOT need to tag as FOUNDER so can make this gene green on this panel. Need to check with clinical team regarding founder tag/pertinence of this gene.Created: 11 Jul 2017, 12:25 p.m.
on Emory Genetics Laboratory Hereditary Neuropathies and Ashkenazi Jewish Carrier Screen: Gene Sequencing PanelCreated: 11 Jul 2017, 12:16 p.m.
Comment on list classification:To be reviewed by clinical team regarding the pertinence of this geneCreated: 9 Jul 2017, 4:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dysautonomia, familial; 223900
Phenotypes for gene: ELP1 were changed from Familial dysautonomia; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Dysautonomia, familial, 223900 to Dysautonomia, familial, OMIM:223900
IKBKAP was changed to ELP1
19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for IKBKAP were set to Familial dysautonomia; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Dysautonomia, familial, 223900
This gene has been classified as Green List (High Evidence).
IKBKAP was added to Pain syndromespanel. Sources: UKGTN
IKBKAP was added to Pain syndromespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Phenotypes for IKBKAP were set to Familial dysautonomia;NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Dysautonomia, familial;223900
This gene has been classified as Amber List (Moderate Evidence).
IKBKAP was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene
IKBKAP was created by BRIDGE